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A Novel Homozygous Founder Variant of <i>RTN4IP1</i> in Two Consanguineous Saudi Families

The genetic architecture of mitochondrial disease continues to expand and currently exceeds more than 350 disease-causing genes. Bi-allelic variants in <i>RTN4IP1</i>, also known as Optic Atrophy-10 (OPA10), lead to early-onset recessive optic neuropathy, atrophy, and encephalopathy in the afflicted...

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Guardado en:
Autores principales: Mazhor Aldosary, Maysoon Alsagob, Hanan AlQudairy, Ana C. González-Álvarez, Stefan T. Arold, Mohammad Anas Dababo, Omar A. Alharbi, Rawan Almass, AlBandary AlBakheet, Dalia AlSarar, Alya Qari, Mysoon M. Al-Ansari, Monika Oláhová, Saif A. Al-Shahrani, Moeenaldeen AlSayed, Dilek Colak, Robert W. Taylor, Mohammed AlOwain, Namik Kaya
Formato: Artigo
Lenguaje:Inglês
Publicado: MDPI AG 2022-10-01
Colección:Cells
Materias:
<i>RTN4IP1</i>
founder variant
missense
age of variant
encephalopathy
optic atrophy
Acceso en línea:https://www.mdpi.com/2073-4409/11/19/3154
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